MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans (original) (raw)
- Brief Communication
- Published: April 2000
- Marinus Dorland1,
- Frits A. Beemer1 &
- …
- Hans Kristian Ploos van Amstel1
Nature Genetics volume 24, pages 342–343 (2000)Cite this article
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Abstract
A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1. The mutant phenotype of the family is similar to that of the Msx1-mutant mouse.
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Acknowledgements
We thank P.L. Pearson for his suggestions in preparing this manuscript.
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Authors and Affiliations
- Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
Marie-José H. van den Boogaard, Marinus Dorland, Frits A. Beemer & Hans Kristian Ploos van Amstel
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- Marie-José H. van den Boogaard
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van den Boogaard, MJ., Dorland, M., Beemer, F. et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.Nat Genet 24, 342–343 (2000). https://doi.org/10.1038/74155
- Issue Date: April 2000
- DOI: https://doi.org/10.1038/74155